A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670530



Internal ID9936635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146527485..146527890hg38UCSC Ensembl
chr7:146224577..146224982hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6289317, essv5813376, essv6009821, essv5857878, essv5915458
SamplesNA19379, NA19455, NA19679, NA19311, HG01108
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670530
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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